Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family
Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent...
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doaj-3bb6456404464ae385b6d8b2609623a62020-11-24T21:11:22ZengWolters Kluwer Medknow PublicationsIndian Journal of Ophthalmology0301-47381998-36892018-01-0166222923210.4103/ijo.IJO_311_17Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia familyIsham PalayilS G PriyaN V Sarath SivanNivean MadhivananPanneer Selvam VenkatachalamMadhavan JagadeesanPurpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. Results: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the sister had all the features except cataract and rise in intraocular pressure. Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. Based on the evaluation and diagnostic testing, the family was clinically managed along with genetic counselling. Conclusion: Molecular diagnostic testing helps in genetic counseling of the family with aniridia to understand the nature of the disease and detection of complications early for better management.http://www.ijo.in/article.asp?issn=0301-4738;year=2018;volume=66;issue=2;spage=229;epage=232;aulast=PalayilAniridiamutation screeningPAX6 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Isham Palayil S G Priya N V Sarath Sivan Nivean Madhivanan Panneer Selvam Venkatachalam Madhavan Jagadeesan |
spellingShingle |
Isham Palayil S G Priya N V Sarath Sivan Nivean Madhivanan Panneer Selvam Venkatachalam Madhavan Jagadeesan Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family Indian Journal of Ophthalmology Aniridia mutation screening PAX6 |
author_facet |
Isham Palayil S G Priya N V Sarath Sivan Nivean Madhivanan Panneer Selvam Venkatachalam Madhavan Jagadeesan |
author_sort |
Isham Palayil |
title |
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family |
title_short |
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family |
title_full |
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family |
title_fullStr |
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family |
title_full_unstemmed |
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family |
title_sort |
identification of a novel frameshift mutation in pax6 gene and the clinical management in an asian indian aniridia family |
publisher |
Wolters Kluwer Medknow Publications |
series |
Indian Journal of Ophthalmology |
issn |
0301-4738 1998-3689 |
publishDate |
2018-01-01 |
description |
Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. Results: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the sister had all the features except cataract and rise in intraocular pressure. Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. Based on the evaluation and diagnostic testing, the family was clinically managed along with genetic counselling. Conclusion: Molecular diagnostic testing helps in genetic counseling of the family with aniridia to understand the nature of the disease and detection of complications early for better management. |
topic |
Aniridia mutation screening PAX6 |
url |
http://www.ijo.in/article.asp?issn=0301-4738;year=2018;volume=66;issue=2;spage=229;epage=232;aulast=Palayil |
work_keys_str_mv |
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